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. 2021 May 24:12:668180.
doi: 10.3389/fneur.2021.668180. eCollection 2021.

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Allison Ducharme-Smith  1 , Stefan Nicolau  2 , C Anwar A Chahal  1   3   4 , Kirstie Ducharme-Smith  5 , Shujah Rehman  1 , Keerthi Jaliparthy  1 , Nadeem Khan  6 , Christopher G Scott  7 , Erik K St Louis  2 , Teerin Liewluck  2 , Virend K Somers  1 , Grace Lin  1 , Peter A Brady  8 , Margherita Milone  2
Affiliations

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Allison Ducharme-Smith et al. Front Neurol. .

Abstract

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in FSHD patients, but their nature and frequency remain incompletely characterized. Methods: We reviewed cardiac, neurological and genetic findings of 104 patients with genetically confirmed FSHD. Results: The most common conduction abnormality was complete (7%) or incomplete (5%) right bundle branch block (RBBB). Bifascicular block, left anterior fascicular block, complete atrioventricular block, and 2:1 atrioventricular block each occurred in 1% of patients. Atrial fibrillation or flutter were seen in 5% of patients. Eight percent of patients had heart failure with reduced ejection fraction and 25% had valvular disease. The latter included aortic stenosis in 6% (severe in 4% and moderate in 2%) and moderate aortic regurgitation in 8%. Mitral valve prolapse (MVP) was present in 9% of patients without significant mitral regurgitation. There were no significant associations between structural or conduction abnormalities and age, degree of muscle weakness, or size of the 4q deletion. Conclusions: Both structural and conduction abnormalities can occur in FSHD. The most common abnormalities are benign (RBBB and MVP), but more significant cardiac involvement was also observed. The presence of cardiac abnormalities cannot be predicted from the severity of the neurological phenotype, nor from the genotype.

Keywords: FSHD; arrhythima; conduction; facioscapulohumeral dystrophy; mitral valve prolapse.

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Conflict of interest statement

GL has received fees from the Pfizer Speaker's bureau. However, there was no involvement in this study in any way. VKS has served as a consultant to U-Health, GlaxoSmithKline, Price Waterhouse Coopers, Rhonda Gray, Dane Garvin, Philips, ResMed, Sorin Inc., and is working with Mayo Health Solutions and their industry partners on intellectual property related to sleep and cardiovascular disease. The Mayo Foundation has received a gift from the Philips Respironics Foundation for the study of sleep and cardiovascular disease. MM receives an honorarium to serve as associate editor of Neurology Genetics. However, none of these entities were involved in this study in any way. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
FSHD, facioscapulohumeral muscular dystrophy; EHR, electronic health record.
See this image and copyright information in PMC

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